Kochi, Mar 1 (Representative) As the world observes Rare Disease Day, Amrita Hospital in Kochi underscores the importance of addressing the inborn errors of immunity disorders.Rare diseases, characterised by a prevalence below 6.5–10% of the population or an incidence below 1:2000, encompass a wide spectrum of conditions, including inborn errors of metabolism, disorders of the blood, structural disorders, rare cancers, and more. Dr. Suma Balan, paediatric rheumatologist at Amrita Hospital, explains the significance of understanding these disorders, stating, “About 72% of rare diseases stem from single gene mutations, which can lead to severe and often life-limiting disorders. Early identification and timely intervention are critical, as many of these conditions require specialised care and treatment.” Amrita Hospital’s dedicated Inborn Errors of Immunity Clinic focuses on providing comprehensive care for patients with these rare disorders.
Dr. Balan adds, “Currently, at Amrita, we are treating more than 100 patients with inborn immune system errors. It is very important to offer multidisciplinary care, involving experts such as paediatric rheumatologists, haematologists, geneticists, pulmonologists, gastroenterologists, neurologists, and infectious disease specialists, as per each patient’s specific needs.” Advancements in molecular genetics have facilitated a better understanding and treatment of these conditions. “From preventative measures such as preventive antibiotics and IV immunoglobulin replacement to targeted therapies and bone marrow transplants, treatment options for inborn errors of immunity have significantly improved,” adds Dr. Balan.
However, challenges remain in raising awareness among healthcare professionals and the general public. Early suspicion, prompt referral, and access to specialised centres are crucial for timely diagnosis and intervention. The Rare Disease Policy of the Indian government recognises the importance of supporting individuals with inborn errors of immunity by offering significant financial aid for evaluation and treatment. As Rare Disease Day draws attention to these often-overlooked conditions, Amrita Hospital urges stakeholders to unite in raising awareness and providing support for individuals living with rare diseases. “Let us seize this opportunity to advocate for better resources and services, ensuring that every patient has the best chance at a good quality of life,” concludes Dr. Balan.